Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000238.4

p.L457P

c.1370T>C

Surrounding Variants

2 papers

NM_000238.4

p.I458F

c.1372A>T

1 paper

NM_000238.4

p.I458V

c.1372A>G

8 papers

NM_000238.4

p.D456A

c.1367A>C

18 papers

NM_000238.4

p.D456Y

c.1366G>T

1 paper

NM_000238.4

p.I458I

c.1374C>T

2 papers

NM_000238.4

p.V459M

c.1375G>A

1 paper

NM_000238.4

p.L452_V454del3

c.1354_1361del9

6 papers

NM_000238.4

p.D460Y

c.1378G>T

1 paper

NM_000238.4

p.V454delFs

c.1360delC

7 papers

NM_000238.4

p.D460A

c.1379A>C

1 paper

NM_000238.4

p.A453delFs

c.1359delA

2 papers

NM_000238.4

p.V454fs

c.1360_1361fs